Mutagenetix > Incidental Mutation

Incidental Mutation 'R5796:Hsd3b9'

447213

Institutional Source

Beutler Lab

Gene Symbol

Hsd3b9

Ensembl Gene

ENSMUSG00000090817

Gene Name

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 9

Synonyms

Gm4450

MMRRC Submission

043387-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R5796 (G1)

Quality Score

140

Status

Not validated

Chromosome

Chromosomal Location

98352991-98364442 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 98354168 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 110 (D110E)

Ref Sequence

ENSEMBL: ENSMUSP00000139967 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000167753] [ENSMUST00000188356]

AlphaFold

E9Q007

Predicted Effect

probably benign
Transcript: ENSMUST00000167753
AA Change: D110E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000127882
Gene: ENSMUSG00000090817
AA Change: D110E

Domain	Start	End	E-Value	Type
Pfam:RmlD_sub_bind	4	260	2.4e-9	PFAM
Pfam:KR	5	133	4.7e-8	PFAM
Pfam:Polysacc_synt_2	6	135	1.2e-12	PFAM
Pfam:NmrA	6	147	2.8e-12	PFAM
Pfam:Epimerase	6	249	2.7e-24	PFAM
Pfam:GDP_Man_Dehyd	7	218	8.6e-13	PFAM
Pfam:3Beta_HSD	7	288	2.4e-106	PFAM
Pfam:NAD_binding_4	8	225	5.8e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187850

Predicted Effect

probably benign
Transcript: ENSMUST00000188356
AA Change: D110E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000139967
Gene: ENSMUSG00000090817
AA Change: D110E

Domain	Start	End	E-Value	Type
Pfam:RmlD_sub_bind	4	175	1.8e-6	PFAM
Pfam:adh_short	5	133	1.3e-8	PFAM
Pfam:KR	5	133	5.6e-8	PFAM
Pfam:Polysacc_synt_2	6	137	3.1e-11	PFAM
Pfam:NmrA	6	147	2.1e-10	PFAM
Pfam:NAD_binding_10	6	175	4e-12	PFAM
Pfam:Epimerase	6	191	1.6e-22	PFAM
Pfam:3Beta_HSD	7	191	1e-71	PFAM
Pfam:NAD_binding_4	8	191	4e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196741

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.1%

Validation Efficiency

93% (51/55)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,215,077 (GRCm39)	T9A	possibly damaging	Het
Abcd3	G	A	3: 121,578,147 (GRCm39)	R160W	probably damaging	Het
Ap3d1	G	T	10: 80,549,871 (GRCm39)	T758K	possibly damaging	Het
Ate1	T	C	7: 130,068,998 (GRCm39)	Y423C	probably damaging	Het
Bsn	C	T	9: 108,003,223 (GRCm39)	G394D	probably damaging	Het
Cacna1d	T	C	14: 29,788,073 (GRCm39)	D1599G	probably damaging	Het
Cd33	A	G	7: 43,182,480 (GRCm39)		probably null	Het
Chct1	A	G	11: 85,064,101 (GRCm39)	T81A	probably null	Het
Col12a1	T	C	9: 79,611,111 (GRCm39)	N154D	possibly damaging	Het
Crocc	TCTGAGCTGCTGAGCTGC	TCTGAGCTGC	4: 140,769,118 (GRCm39)		probably null	Het
Cts3	A	T	13: 61,716,517 (GRCm39)	Y40N	probably damaging	Het
Cyfip2	T	C	11: 46,089,823 (GRCm39)	N1197D	probably benign	Het
Dclre1b	G	A	3: 103,714,773 (GRCm39)	Q77*	probably null	Het
Dsc3	T	A	18: 20,104,558 (GRCm39)	M590L	probably benign	Het
Efcab14	A	T	4: 115,603,780 (GRCm39)	I153F	probably damaging	Het
Fbxo42	T	C	4: 140,927,100 (GRCm39)	V460A	probably benign	Het
Fgl1	T	G	8: 41,652,796 (GRCm39)		probably benign	Het
Gbf1	T	C	19: 46,272,782 (GRCm39)	S1697P	probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm15056	C	A	8: 21,391,998 (GRCm39)		probably benign	Het
Gm17409	T	A	2: 58,361,034 (GRCm39)		probably benign	Het
Gm20730	A	G	6: 43,058,464 (GRCm39)	L116P	probably damaging	Het
Grb2	T	G	11: 115,536,698 (GRCm39)	H184P	probably benign	Het
Hepacam2	G	C	6: 3,466,200 (GRCm39)		probably null	Het
Igkv4-55	T	A	6: 69,584,432 (GRCm39)	K60M	possibly damaging	Het
Itfg1	T	A	8: 86,445,522 (GRCm39)	H603L	probably damaging	Het
Katna1	C	A	10: 7,636,575 (GRCm39)	D366E	probably damaging	Het
Klk1b26	A	G	7: 43,665,752 (GRCm39)	Y188C	probably damaging	Het
Ldhd	T	C	8: 112,353,722 (GRCm39)	T464A	probably benign	Het
Muc5b	T	C	7: 141,411,133 (GRCm39)	S1360P	unknown	Het
Nckipsd	T	G	9: 108,688,813 (GRCm39)	V116G	probably benign	Het
Nhsl1	C	T	10: 18,399,998 (GRCm39)	S374L	probably benign	Het
Oxt	G	A	2: 130,418,533 (GRCm39)	G48D	probably damaging	Het
Pramel21	A	G	4: 143,341,778 (GRCm39)	N69S	probably benign	Het
Ptprk	C	T	10: 28,259,571 (GRCm39)	T337I	probably damaging	Het
Rad54b	A	T	4: 11,615,446 (GRCm39)	D818V	probably benign	Het
Rbpjl	T	C	2: 164,252,168 (GRCm39)		probably benign	Het
Recql5	T	A	11: 115,818,691 (GRCm39)		probably benign	Het
Robo4	A	T	9: 37,322,970 (GRCm39)	D830V	probably benign	Het
Rps6kb1	C	T	11: 86,402,677 (GRCm39)	G339S	probably benign	Het
Rtel1	G	A	2: 180,982,299 (GRCm39)	E350K	probably benign	Het
Rtn3	A	G	19: 7,434,832 (GRCm39)	S368P	possibly damaging	Het
Smad5	A	G	13: 56,871,645 (GRCm39)	H80R	probably damaging	Het
Sppl2c	T	A	11: 104,078,619 (GRCm39)	M473K	probably benign	Het
Tbrg1	A	G	9: 37,563,871 (GRCm39)		probably benign	Het
Tcf7	A	G	11: 52,152,354 (GRCm39)	I65T	probably benign	Het
Tgm2	T	C	2: 157,960,824 (GRCm39)	D618G	probably benign	Het
Tuba3b	C	T	6: 145,565,408 (GRCm39)	T292I	probably damaging	Het
Vmn1r63	G	A	7: 5,806,140 (GRCm39)	S164L	probably benign	Het
Zfp382	A	G	7: 29,832,774 (GRCm39)	K142E	probably damaging	Het
Zmym3	G	A	X: 100,459,406 (GRCm39)	P308L	probably benign	Het

Other mutations in Hsd3b9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00469:Hsd3b9	APN	3	98,363,716 (GRCm39)	missense	probably benign
IGL02004:Hsd3b9	APN	3	98,363,735 (GRCm39)	missense	probably damaging	1.00
R0688:Hsd3b9	UTSW	3	98,363,710 (GRCm39)	missense	probably benign	0.19
R1301:Hsd3b9	UTSW	3	98,354,182 (GRCm39)	nonsense	probably null
R2926:Hsd3b9	UTSW	3	98,357,872 (GRCm39)	splice site	probably benign
R4797:Hsd3b9	UTSW	3	98,363,747 (GRCm39)	nonsense	probably null
R4915:Hsd3b9	UTSW	3	98,357,845 (GRCm39)	missense	probably damaging	0.97
R6479:Hsd3b9	UTSW	3	98,354,157 (GRCm39)	missense	possibly damaging	0.79
R7085:Hsd3b9	UTSW	3	98,357,710 (GRCm39)	missense	probably damaging	1.00
R8417:Hsd3b9	UTSW	3	98,363,731 (GRCm39)	missense	probably benign	0.08
R8821:Hsd3b9	UTSW	3	98,354,047 (GRCm39)	missense	probably benign	0.27
R8831:Hsd3b9	UTSW	3	98,354,047 (GRCm39)	missense	probably benign	0.27
R9182:Hsd3b9	UTSW	3	98,354,005 (GRCm39)	missense	possibly damaging	0.70
R9401:Hsd3b9	UTSW	3	98,363,819 (GRCm39)	missense	probably damaging	1.00
R9522:Hsd3b9	UTSW	3	98,353,783 (GRCm39)	missense	probably benign
Z1176:Hsd3b9	UTSW	3	98,363,771 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTTCAGGATGCTCCCATTGGC -3'
(R):5'- GTCACCTCCATTAATTTCAGAGTG -3'

Sequencing Primer
(F):5'- TGCTCCCATTGGCTGCCAG -3'
(R):5'- TTTGGGATGGAGACCAGT -3'

Posted On

2016-12-15